Steven J. Fliesler, PhD, is lead author of a study that found adding antioxidant therapy to current standard of care prevents retinal degeneration in a rare genetic disease.

Antioxidant Therapy Prevents Vision Loss in Rare Birth Defect

Published
February 20, 2018

Vision researchers at the Jacobs School of Medicine and
Biomedical Sciences and VA Western New York Healthcare System
led a study demonstrating that adding antioxidant therapy to
current standard of care prevents vision loss in an animal model of
a rare genetic disease.

“Using our combination therapy approach, we were able to prevent otherwise progressive and irreversible retinal degeneration from occurring in a rodent model of this hereditary human metabolic disease ...”

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Therapy Effective in Preventing Retinal Degeneration

The
paper — published Jan. 19 in Scientific
Reports — describes the combination therapy that
resulted in preventing the retinal degeneration that occurs in an
animal model of Smith-Lemli-Opitz syndrome (SLOS).

Caused by the body’s inability to make cholesterol, SLOS
is a birth defect that results in multiple neurosensory and
cognitive abnormalities, physical deformities and disabilities,
including impaired vision. In severe cases, it can be fatal.

“Using our combination therapy approach, we were able to
prevent otherwise progressive and irreversible retinal degeneration
from occurring in a rodent model of this hereditary human metabolic
disease that we had previously developed,” says Steven
J. Fliesler, PhD, the paper’s lead author and UB
Distinguished Professor and Meyer H. Riwchun Endowed Chair
Professor of ophthalmology.

Blocking Oxidation of Specific Molecule Key Component

To treat the condition, dietary supplementation with cholesterol
is prescribed in addition to treating the individual conditions
seen in babies with SLOS, ranging from those affecting the central
nervous system (including the eyes) to the heart, lungs,
gastrointestinal tract and genitourinary systems, as well as the
musculoskeletal system.

However, Fliesler notes that outcomes from the supplementation
vary widely.

“We hypothesized — based upon findings in the
literature, including seminal work from my lab — that
oxidation of a specific molecule (which happens to be the immediate
precursor of cholesterol) was key to the disease mechanism,”
he explains.

“We reasoned that blocking such oxidation with
antioxidants should prevent or significantly reduce the severity of
the retinal degeneration observed in the rodent model. That
evidence-based therapeutic approach worked.”

Added Preclinical Studies Needed to Refine Dosages

Fliesler cautions that more studies are needed before scientists
may be able to suggest a similar type of combination therapy might
also be effective with humans.

“It is advisable to conduct additional preclinical studies
using appropriate animal models of the disease — such as
those we used in this study — in order to refine dosages and
specific antioxidant combinations,” he says. “Some
emerging, highly potent antioxidants not yet approved for human use
might in the future be appropriate to investigate as a potential
treatment for human SLOS patients.”

Fliesler is vice-chair and director of research for the
Department of Ophthalmology and director of research for
the Ira G. Ross Eye
Institute Vision Research Center. Additionally, he is a
Research Career Scientist at the VA Western NY Healthcare System,
where he directs the Ross Eye Institute Vision Research Center.